A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745810



Internal ID10326780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:41266019..41266352hg38UCSC Ensembl
Outerchr12:41659821..41660154hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787765, essv6819707, essv6867177, essv6894661, essv6823637, essv6870746, essv6800230, essv6900653, essv6720699, essv6709507, essv6899443, essv6673169, essv6891301, essv6908899, essv6977207, essv6838634, essv6851199, essv6949104, essv6888011, essv6959282, essv6713007, essv6885094, essv6862403, essv6827714, essv6845958, essv6865798, essv6724515, essv6882328, essv6965788, essv6815478
SamplesSSM100, SSM083, SSM027, SSM024, SSM045, SSM011, SSM079, SSM097, SSM042, SSM088, SSM041, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM031, SSM044, SSM014, SSM086, SSM085, SSM072, SSM078, SSM080, SSM077, SSM095, SSM098, SSM012
Known GenesPDZRN4
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745810
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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